Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations

Saltik-Temizel İ. N., Coskun T., Yuce A., Kocak N.

TURKISH JOURNAL OF PEDIATRICS, vol.47, no.2, pp.167-169, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 2
  • Publication Date: 2005
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.167-169
  • Keywords: Fanconi-Bickel syndrome, glycogenosis, mutation analysis, GLUCOSE-TRANSPORTER, GLUT2 GENE, SLC2A2 GLUT2
  • Hacettepe University Affiliated: Yes

Abstract

Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.